Results 91 to 100 of about 5,413 (278)
Severe Megaloblastic Anaemia in an Infant [PDF]
, 2011 Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia.
Brito, MJ +4 more
core +2 more sources
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
Clinical Genetics, Volume 108, Issue 3, Page 334-346, September 2025.This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut +7 more
wiley +1 more source
Ankyloglossia: Surgical management and functional rehabilitation of tongue
Indian Journal of Dental Research, 2017 Ankyloglossia or “tongue-tie” is a rare congenital anomaly characterized by an abnormally short, thick, fibrosed lingual frenulum which may cause restriction in function of tongue including limitation in tongue movement.
Shadab Khan +2 more
doaj +1 more source
An update on the aetiology of orofacial clefts [PDF]
, 2004 Objective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft ...
Hägg, U, Wong, FK
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Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. [PDF]
, 2018 Orofacial clefting represents the most common craniofacial birth defect. Cleft lip with or without cleft palate (CL/P) is genetically distinct from cleft palate only (CPO).
Berkes +78 more
core +1 more source
Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series
Pediatric Blood &Cancer, Volume 72, Issue 8, August 2025.ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala +9 more
wiley +1 more source
Az epidermolysis bullosa szájüregi tünetei és annak ellátása [PDF]
, 2017 The aim of this comprehensive article is to provide guidelines for the daily treatment of patients with epidermolysis bullosa, thus contributing to the attainment of their higher quality of life through the improvement of their oral health.
Antal, Márk Ádám +5 more
core +3 more sources
Epidermolysis bullosa for primary care providers: A practical review
Journal of General and Family Medicine, Volume 26, Issue 4, Page 279-291, July 2025.Abstract Epidermolysis bullosa (EB) is a group of genetic skin diseases, which manifest as fragile skin and blistering in addition to many extracutaneous conditions. Pediatricians and primary care providers play an integral role in managing these patients with multifaceted care needs.
Kennedy Sparling +9 more
wiley +1 more source
Ankyloglossia with cleft lip: A rare case report
Journal of Indian Society of Periodontology, 2015 Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment ...
Kritika Jangid +4 more
doaj +1 more source
Versatility of an 810 NM Diode Laser in Pediatric Dentistry [PDF]
, 2013 Purpose: During the last few years, the use of laser techniques has dominated the dentistry world as an alternative to different traditional methods or in combination with these.
Docimo, R, Maturo, P, Perugia, C
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